ClinVar Miner

Submissions for variant NM_001805.4(CEBPE):c.403C>T (p.Arg135Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003774939 SCV004640798 pathogenic Specific granule deficiency 2022-10-27 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1705853). This premature translational stop signal has been observed in individual(s) with specific granule deficiency (PMID: 32391290). This variant is present in population databases (rs775036569, gnomAD 0.002%). This sequence change creates a premature translational stop signal (p.Arg135*) in the CEBPE gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CEBPE are known to be pathogenic (PMID: 11313242, 11435463).
OMIM RCV002284161 SCV002573541 pathogenic Specific granule deficiency 1 2022-09-15 no assertion criteria provided literature only

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